Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Case Presentation
  • Published:

Perinatal/Neonatal Case Presentation

Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: a case report and review of the literature

Journal of Perinatology volume 32, pages 642–644 (2012)Cite this article

Subjects

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs). The disease rarely presents in the neonatal period, primarily manifesting with epistaxis and gastrointestinal bleeding in adulthood. Occasionally, HHT can also present with symptoms related to AVMs in the cerebral, pulmonary or gastrointestinal vasculature. In prior reports, intracranial hemorrhage (ICH) secondary to cerebral AVM in neonates with HHT has been catastrophic and uniformly fatal. Here we report a case of a newborn with HHT and ICH from a suspected AVM who survived with aggressive medical management and surgical intervention, and provide a comprehensive review of the literature on ICH in neonates with HHT.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2
Figure 3

Similar content being viewed by others

References

  1. Giordano P, Nigro A, Lenato GM, Guanti G, Suppressa P, Lastella P et al. Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician. J Thromb Haemost 2006; 4: 1237–1245.

    Article  CAS  Google Scholar 

  2. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R et al. Intracranial hemorrhage in infants and children with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics 2002; 109: E12.

    Article  Google Scholar 

  3. Bourdeau A, Cymerman U, Paquet M-E, Meschino W, McKinnon WC, Guttmacher AE et al. Endoglin expression is reduced in normal vessels but is still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type I. Am J Pathol 2000; 156: 911–923.

    Article  CAS  Google Scholar 

  4. Kuo Y-H, Santoreneos S, Roos D, Brophy BP . Treatment of multiple arteriovenous malformations in pediatric patients with hereditary hemorrhagic telangiectasia and spontaneous hemorrhage. Report of two cases. J Neurosurg 2007; 107: 489–494.

    PubMed  Google Scholar 

  5. Maher CO, Piepgras DG, Brough Jr RD, Friedman JA, Pollock BE . Cerebrovascular manifestations in 321 cases of hereditary hemorrhage telangiectasia. Stroke 2001; 32: 877–882.

    Article  CAS  Google Scholar 

  6. Boynton R, Morgan B . Cerebral arteriovenous fistula withpossible hereditary telangiectasia. Am J Dis Child 1973; 125: 99–101.

    CAS  PubMed  Google Scholar 

  7. Roy C, Noseda G, Arzimanoglou A, Harpey JP, Binet MH, Vaur C et al. Maladie de Rendu-Osler révélée par la rupture d’un anévrysme artériel cérébral chez un nourrisson. Arch Fr Pediatr 1990; 47: 741–742.

    CAS  PubMed  Google Scholar 

  8. Putman C, Chaloupka J, Fulbright R, Awad A, White R, Favad P et al. Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome). AJNR Am J Neuroradiol 1996; 17: 1733–1742.

    CAS  PubMed  Google Scholar 

  9. Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL . Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years. Neuroradiology 2005; 47: 711–720.

    Article  CAS  Google Scholar 

  10. Lobato RD, Perez C, Rivas JJ, Cordobes F . Clinical, radiological, and pathological spectrum of angiographically occult intracranial vascular malformations. Analysis of 21 cases and review of the literature. J Neurosurg 1988; 68: 518–531.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Tripler Army Medical Center, Honolulu, HI, USA

    H M Delaney & T L Sawyer

  2. Department of Radiology, Tripler Army Medical Center, Honolulu, HI, USA

    V J Rooks

  3. Department of Neurosurgery, Tripler Army Medical Center, Honolulu, HI, USA

    S Q Wolfe

Authors
  1. H M Delaney
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. V J Rooks
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S Q Wolfe
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. T L Sawyer
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to H M Delaney.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Additional information

Disclaimer

The views expressed in this abstract/manuscript are those of the author(s) and do not reflect the official policy or position of the Department of Army, Department of Defense or the US Government.

Supplementary Information accompanies the paper on the Journal of Perinatology website

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Delaney, H., Rooks, V., Wolfe, S. et al. Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: a case report and review of the literature. J Perinatol 32, 642–644 (2012). https://doi.org/10.1038/jp.2011.146

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2011.146

Keywords

This article is cited by

Search

Advanced search

Quick links